Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcb4b1d842b4e667ef8a71a797f1f97c2> ?p ?o ?g. }
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- Bcb4b1d842b4e667ef8a71a797f1f97c2 hasDbXref "Orphanet:3365" @default.
- Bcb4b1d842b4e667ef8a71a797f1f97c2 type Axiom @default.
- Bcb4b1d842b4e667ef8a71a797f1f97c2 annotatedProperty IAO_0000115 @default.
- Bcb4b1d842b4e667ef8a71a797f1f97c2 annotatedSource MONDO_0018064 @default.
- Bcb4b1d842b4e667ef8a71a797f1f97c2 annotatedTarget "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." @default.